Features of multiple self‐healing squamous epithelioma and Loeys‐Dietz syndrome in a patient with a novel TGFBR1 variant

Multiple self‐healing squamous epithelioma (MSSE, Ferguson‐Smith disease) and Loeys‐Dietz syndrome (LDS) are allelic conditions associated with pathogenic variants in the transforming growth factor beta receptor 1 gene (TGFBR1). We describe a patient with a novel missense variant in this gene: c.664G > A, p.[Gly222Arg], who clinically presents with both syndromes. The patient also has a history of gastric antral vascular ectasia, which has not been reported previously in LDS.

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